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KMT2C c.7771_7773delinsAGC ;(p.G2591S)
Variant ID: 7-151874765-TCC-GCT
NM_170606.2(
KMT2C
):c.7771_7773delinsAGC;(p.G2591S)
This variant was identified in 1 publication
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
High diagnostic rate of trio exome sequencing in consanguineous families with neurogenetic diseases.
Brain : A Journal Of Neurology
Hiz Kurul, Semra S; Oktay, Yavuz Y; Töpf, Ana A; Szabó, Nóra Zs NZ; Güngör, Serdal S; Yaramis, Ahmet A; Sonmezler, Ece E; Matalonga, Leslie L; Yis, Uluc U; Schon, Katherine K; Paramonov, Ida I; Kalafatcilar, İpek Polat İP; Gao, Fei F; Rieger, Aliz A; Arslan, Nur N; Yilmaz, Elmasnur E; Ekinci, Burcu B; Edem, Pinar Pulat PP; Aslan, Mahmut M; Özgör, Bilge B; Lochmüller, Angela A; Nair, Ashwati A; O'Heir, Emily E; Lovgren, Alysia K AK; , ; Maroofian, Reza R; Houlden, Henry H; Polavarapu, Kiran K; Roos, Andreas A; Müller, Juliane S JS; Hathazi, Denisa D; Chinnery, Patrick F PF; Laurie, Steven S; Beltran, Sergi S; Lochmüller, Hanns H; Horvath, Rita R
Publication Date: 2022-05-24
Variant appearance in text: KMT2C: Gly2591Ser
PubMed Link:
34791078
Variant Present in the following documents:
Main text
awab395.pdf
View BVdb publication page